Lysosomal storage diseases table

Primary lysosomal hydrolase defects. Two-thirds of the lysosomal storage diseases involve defects in genes that code for acid hydrolases. Table 41-2 lists 29 defects that have been defined so far. They have an autosomal recessive mode of inheritance, except for Hunter s syndrome and Fabry s disease, where the mode is X-linked recessive. The defective genes have been identified and mutations have been defined for nearly all. The nervous system is involved in most. Many of the disorders show a wide range of clinical severity, which may range from death in early childhood to a moderate disability in adulthood. 

TABLE 41-1 Lysosomal storage diseases classified on basis of molecular defects... 

Table 20-1 Lysosomal Storage Diseases Sphingolipidoses and Mucopolysaccharidoses... 

Glycosphinqolipid Hydrolases. The deficiency of lysosomal glycosylhydrolases has been shown in a number of lipid storage diseases (as summarized in Table II) using cultured fibroblasts (29). ... 

Other lysosomal storage disorders include G j gangliosidoses, G gangliosidoses, Gaucher disease, Niemann-Pick disease, Fabry disease, fucosidosis, Schindler disease, metachromatic leukodystrophy, Krabbe disease, multiple sulfatase deficiency, Farber disease, and Wolman disease. Table 28-1 illustrates the enzyme deficiencies found in some of these disorders. 

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